Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic.

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Ayesha Harisinghani, Gabriella Raffaele, Carrie Blout Zawatsky, Stephanie L Santoro
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引用次数: 0

Abstract

Down syndrome (DS) and other genetic conditions have been reported to co-occur in the same person. This study sought to examine the genetic evaluation beyond chromosome analysis of individuals with DS at one DS specialty clinic. Retrospective chart review of genetic testing performed beyond chromosome analysis, the indication for the genetic testing, and the result of the genetic testing from the electronic health record was performed. Demographic information was collected and summary statistics, including mean and frequency, were calculated. The charts of 637 individuals with DS were reviewed. Overall, 146 genetic tests in addition to routine chromosome analysis were performed on 92 individuals with DS. Tests included chromosomal microarray, gene panels, and whole exome sequencing. Tests were performed for the indication of: autism spectrum disorder, celiac disease, dementia, hematologic diseases, and others. Eleven individuals with DS were found to have a second genetic diagnosis. Individuals with DS in one multidisciplinary clinic for DS had a variety of genetic tests beyond chromosomes completed, for varied indications, and with some abnormal results leading to additional diagnoses. Additional genetic testing beyond chromosome analysis is a reasonable consideration for patients with DS who have features suggestive of a secondary diagnosis.

染色体分析之外:唐氏综合症诊所的额外基因检测实践。
据报道,唐氏综合症(DS)和其他遗传疾病同时发生在同一个人身上。这项研究试图在一家DS专科诊所检查DS患者染色体分析之外的遗传评估。对染色体分析之外的遗传检测、遗传检测的适应症以及电子健康记录中的遗传检测结果进行了回顾性图表审查。收集了人口统计信息,并计算了包括平均值和频率在内的汇总统计数据。对637名DS患者的病历进行了回顾性分析。除常规染色体分析外,总共对92名DS患者进行了146项基因测试。测试包括染色体微阵列、基因组和全外显子组测序。对自闭症谱系障碍、乳糜泻、痴呆、血液系统疾病和其他疾病的适应症进行了测试。11名DS患者被发现有第二次基因诊断。在一家DS多学科诊所,患有DS的患者除了完成染色体外,还进行了各种遗传测试,以确定各种适应症,并且一些异常结果导致了额外的诊断。染色体分析之外的额外基因检测是DS患者的合理考虑因素,这些患者具有提示二次诊断的特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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